HIES
MCID: HYP458
MIFTS: 52

Hyper Ige Syndrome (HIES)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hyper Ige Syndrome

MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 53
Hyper-Ige Syndrome 37 29 55 6
Hyper-Ige Recurrent Infection Syndrome 53
Hyperimmunoglobulin E Syndrome 53
Hartnup Disease 73
Job Syndrome 73
H Disease 55
Hies 53

Classifications:



External Ids:

KEGG 37 H01968

Summaries for Hyper Ige Syndrome

NIH Rare Diseases : 53 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper-ige recurrent infection syndrome, autosomal dominant and dermatitis, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Posaconazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and t cells, and related phenotypes are hematopoietic system and cellular

Related Diseases for Hyper Ige Syndrome

Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 694)
# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome, autosomal dominant 33.4 DOCK8 PGM3 STAT3 TYK2
2 dermatitis 30.3 IFNG IGHE IL4 STAT3
3 folliculitis 29.9 IFNG IL4
4 orofacial granulomatosis 29.9 IFNG IL4
5 dermatitis, atopic 29.7 IFNG IGHE IL4 IL4R TLR4
6 otitis media 29.5 IGHE IL4 TLR4
7 renal cell carcinoma, nonpapillary 29.5 IFNG IL4 IL4R
8 aspergillosis 29.5 IFNG IL4 TLR4
9 poliomyelitis 29.3 IFNG IL4
10 variola major 29.2 IFNG TLR4
11 acute graft versus host disease 29.2 IFNG IL4
12 echinococcosis 29.2 IFNG TLR4
13 allergic asthma 29.2 IFNG IGHE IL4 IL4R
14 schistosomiasis 29.2 IFNG IGHE IL4
15 aplastic anemia 29.1 IFNG IL4 STAT3
16 asthma 29.0 IFNG IGHE IL4 IL4R TLR4
17 ige responsiveness, atopic 28.9 IFNG IGHE IL4 IL4R
18 q fever 28.9 IFNG IL4 TLR4
19 mycobacterium tuberculosis 1 28.9 IFNG IL4 TLR4
20 colitis 28.9 IFNG IL4 TLR4
21 autoimmune disease 28.9 IFNG IL4 STAT3
22 malaria 28.8 HBA2 IFNG IL4 TLR4
23 bronchiolitis 28.7 IFNG IGHE IL4 IL4R TLR4
24 inflammatory bowel disease 28.5 IFNG IL4 IL4R STAT3 TLR4
25 his bundle tachycardia 12.4
26 hyper-ige recurrent infection syndrome, autosomal recessive 12.1
27 immunodeficiency 35 11.8
28 alpha-thalassemia myelodysplasia syndrome 11.7
29 histidinemia 11.6
30 hyperinsulinemic hypoglycemia, familial, 6 11.6
31 renal glucosuria 11.5
32 polyarteritis nodosa, childhood-onset 11.5
33 al-raqad syndrome 11.5
34 obstructive nephropathy 11.5
35 lyme disease 11.5
36 ichthyosis, congenital, autosomal recessive 4b 11.4
37 ocular motor apraxia 11.2
38 inherited metabolic disorder 11.2
39 leukocyte adhesion deficiency, type iii 11.2
40 progressive familial heart block, type ia 11.2
41 cataract 32, multiple types 11.2
42 centralopathic epilepsy 11.2
43 craniosynostosis 1 11.2
44 elastosis perforans serpiginosa 11.2
45 emphysema, congenital lobar 11.2
46 carney complex, type 1 11.2
47 peroxisome biogenesis disorder 1a 11.2
48 fanconi anemia, complementation group c 11.2
49 farber lipogranulomatosis 11.2
50 neuraminidase deficiency 11.2

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome

Symptoms & Phenotypes for Hyper Ige Syndrome

UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.01 DOCK8 IFNG IL4 IL4R PGM3 STAT3
2 cellular MP:0005384 10 DOCK8 IFNG IL4 IL4R STAT3 TLR4
3 immune system MP:0005387 9.97 DOCK8 IFNG IL4 IL4R PGM3 STAT3
4 digestive/alimentary MP:0005381 9.91 IFNG IL4 IL4R PGM3 STAT3 TLR4
5 mortality/aging MP:0010768 9.86 HBA2 IFNG IL4 IL4R PGM3 STAT3
6 liver/biliary system MP:0005370 9.72 IFNG IL4 IL4R STAT3 TLR4
7 renal/urinary system MP:0005367 9.55 IFNG IL4 PGM3 STAT3 TLR4
8 reproductive system MP:0005389 9.43 HBA2 IFNG IL4 PGM3 STAT3 TLR4
9 respiratory system MP:0005388 9.02 IFNG IL4 IL4R STAT3 TLR4

Drugs & Therapeutics for Hyper Ige Syndrome

Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
2
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
3 Hormone Antagonists Phase 3
4 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
6 Antiprotozoal Agents Phase 3,Phase 2
7 Cytochrome P-450 Enzyme Inhibitors Phase 3
8 Hormones Phase 3
9 Antifungal Agents Phase 3,Phase 2
10 Antiparasitic Agents Phase 3,Phase 2
11 Steroid Synthesis Inhibitors Phase 3
12
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
13
Histamine Approved, Investigational Phase 2 51-45-6, 75614-87-8 774
14
Ranitidine Approved Phase 2 66357-35-5, 66357-59-3 3001055
15
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
16 Immunologic Factors Phase 2
17 Agglutinins Phase 2
18 Antibodies Phase 2,Phase 1
19 Immunoglobulins Phase 2,Phase 1
20 Vaccines Phase 2
21 Liposomal amphotericin B Phase 2
22 Autoantibodies Phase 2
23 Anti-Bacterial Agents Phase 2,Not Applicable
24 Histamine H2 Antagonists Phase 2
25 Anti-Ulcer Agents Phase 2
26 Ranitidine bismuth citrate Phase 2
27 Citrate Phase 2
28 Antacids Phase 2
29
Bismuth Phase 2 7440-69-9 16682734 105143
30 Bismuth tripotassium dicitrate Phase 2
31 Neurotransmitter Agents Phase 2
32 Gastrointestinal Agents Phase 2
33
Histamine Phosphate Phase 2 51-74-1 65513
34 Histamine Antagonists Phase 2
35
Omalizumab Approved, Investigational Phase 1 242138-07-4
36 Anti-Asthmatic Agents Phase 1
37 Anti-Allergic Agents Phase 1
38 Respiratory System Agents Phase 1
39 Coagulase Not Applicable
40 Yellow Dock

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
4 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
10 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
11 Study of Mycobacterial Infections Recruiting NCT00018044
12 Human Immunity Against Staphylococcus Aureus Skin Infection Recruiting NCT02262819 Not Applicable S. aureus
13 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
14 Collection of Lung Fluid and Tissue Samples for Research Recruiting NCT00471250
15 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
16 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
17 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
18 Genetic Analysis of Immune Disorders Enrolling by invitation NCT00001467

Search NIH Clinical Center for Hyper Ige Syndrome

Genetic Tests for Hyper Ige Syndrome

Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 29

Anatomical Context for Hyper Ige Syndrome

MalaCards organs/tissues related to Hyper Ige Syndrome:

41
Skin, Lung, T Cells, B Cells, Bone, Liver, Heart

Publications for Hyper Ige Syndrome

Articles related to Hyper Ige Syndrome:

(show top 50) (show all 272)
# Title Authors Year
1
Evaluation of the Role of <i>stat3</i> in Antibody and T<sub>H</sub>17-Mediated Responses to Pneumococcal Immunization and Infection by Use of a Mouse Model of Autosomal Dominant Hyper-IgE Syndrome. ( 29463618 )
2018
2
Esophageal Intramural Pseudodiverticulosis with Tracking in a Child with Autosomal Dominant Hyper-IgE Syndrome. ( 29746342 )
2018
3
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. ( 29907691 )
2018
4
Pulmonary Artery Pseudoaneurysm in Hyper-IgE Syndrome: Rare Complication With Successful Endovascular Management. ( 29552943 )
2018
5
Rapid Transition of Facial Features from Early to Mid - Adolescence in Autosomal Dominant Hyper IgE Syndrome with a STAT3 Variation. ( 29368105 )
2018
6
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. ( 29868029 )
2018
7
Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene. ( 29419892 )
2018
8
Autosomal-Recessive Hyper-IgE Syndrome. ( 29527033 )
2018
9
A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. ( 30186644 )
2018
10
TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome. ( 30035749 )
2018
11
Chronic rhinosinusitis with severe nasal polyposis in hyper-IgE syndrome. ( 30081087 )
2018
12
Human hyper-IgE syndrome: singular or plural? ( 30094507 )
2018
13
Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media. ( 30112673 )
2018
14
Phenotyping and long-term follow up of patients with hyper IgE syndrome. ( 30279075 )
2018
15
Selective loss of function variants in IL6ST cause Hyper-IgE Syndrome with distinct impairments of T cell phenotype and function. ( 30309848 )
2018
16
Eosinophilia and reduced STAT3 signaling affect neutrophil cell death in autosomal-dominant Hyper-IgE syndrome. ( 30315710 )
2018
17
Odontogenic deep neck space infection in a patient with hyper-IgE syndrome: A case report. ( 30386513 )
2018
18
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. ( 30425284 )
2018
19
TH9 immunodeficiency in patients with hyper-IgE syndrome. ( 30439405 )
2018
20
Report of Massive Bleed after Chest-drain Insertion in a Case of Job's (hyper-IgE) Syndrome. ( 30443121 )
2018
21
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. ( 28939137 )
2017
22
Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome. ( 29269803 )
2017
23
Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome. ( 28587312 )
2017
24
Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation. ( 28167354 )
2017
25
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity. ( 27844301 )
2017
26
Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome. ( 28203787 )
2017
27
Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review. ( 28197791 )
2017
28
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome. ( 28803389 )
2017
29
Acute cardiac disease in a patient with hyper-IgE syndrome. ( 28884991 )
2017
30
Functional Defects in Type 3 Innate Lymphoid Cells and Classical Monocytes in a Patient with Hyper-IgE Syndrome. ( 29093656 )
2017
31
Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin Positive S. aureus Mimic Hyper IgE Syndrome in an Infant. ( 28938255 )
2017
32
Cold-induced hyperhidrosis: possible association with hyper-IgE syndrome. ( 27778332 )
2017
33
Hyper IgE Syndrome and Renal Cell Carcinoma. ( 28607797 )
2017
34
Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient. ( 28562253 )
2017
35
Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report. ( 28902078 )
2017
36
Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome. ( 28643229 )
2017
37
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. ( 28315006 )
2017
38
Pediatric anaphylaxis and hyper IgE syndrome. ( 28280372 )
2017
39
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
40
B-cell-specific STAT3 deficiency: Insight into the molecular basis ofA autosomal-dominant hyper-IgE syndrome. ( 27423495 )
2016
41
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome. ( 27315770 )
2016
42
Hyper-IgE syndrome with a novel mutation of the STAT3 gene. ( 27333819 )
2016
43
Autosomal Dominant Hyper IgE Syndrome - Treatment Strategies and Clinical Outcomes. ( 26743515 )
2016
44
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome. ( 27488252 )
2016
45
Hyper-IgE Syndrome in an Infant. ( 26801049 )
2016
46
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. ( 27799162 )
2016
47
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. ( 27091139 )
2016
48
Liver abscess in a boy with hyper IgE syndrome. ( 27843873 )
2016
49
Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. ( 26659092 )
2016
50
TH17 Cells in STAT3 Related Hyper-IgE Syndrome. ( 27226025 )
2016

Variations for Hyper Ige Syndrome

ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show top 50) (show all 340)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
2 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh38 Chromosome 17, 42322474: 42322474
3 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh37 Chromosome 17, 40475383: 40475383
4 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh38 Chromosome 17, 42323365: 42323365
5 PGM3 NM_015599.2(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh37 Chromosome 6, 83898474: 83898474
6 PGM3 NM_015599.2(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh38 Chromosome 6, 83188755: 83188755
7 PGM3 NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh37 Chromosome 6, 83880059: 83880059
8 PGM3 NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh38 Chromosome 6, 83170340: 83170340
9 DOCK8 NM_203447.3(DOCK8): c.1692T> C (p.Tyr564=) single nucleotide variant Benign rs10972587 GRCh37 Chromosome 9, 368030: 368030
10 DOCK8 NM_203447.3(DOCK8): c.1692T> C (p.Tyr564=) single nucleotide variant Benign rs10972587 GRCh38 Chromosome 9, 368030: 368030
11 DOCK8 NM_203447.3(DOCK8): c.1790C> T (p.Ala597Val) single nucleotide variant Benign/Likely benign rs17673268 GRCh37 Chromosome 9, 368128: 368128
12 DOCK8 NM_203447.3(DOCK8): c.1790C> T (p.Ala597Val) single nucleotide variant Benign/Likely benign rs17673268 GRCh38 Chromosome 9, 368128: 368128
13 DOCK8 NM_203447.3(DOCK8): c.1812A> G (p.Lys604=) single nucleotide variant Benign rs913703 GRCh37 Chromosome 9, 370244: 370244
14 DOCK8 NM_203447.3(DOCK8): c.1812A> G (p.Lys604=) single nucleotide variant Benign rs913703 GRCh38 Chromosome 9, 370244: 370244
15 DOCK8 NM_203447.3(DOCK8): c.2295C> T (p.Ser765=) single nucleotide variant Benign/Likely benign rs12348944 GRCh37 Chromosome 9, 377066: 377066
16 DOCK8 NM_203447.3(DOCK8): c.2295C> T (p.Ser765=) single nucleotide variant Benign/Likely benign rs12348944 GRCh38 Chromosome 9, 377066: 377066
17 DOCK8 NM_203447.3(DOCK8): c.2340G> C (p.Leu780=) single nucleotide variant Benign rs10814431 GRCh37 Chromosome 9, 377111: 377111
18 DOCK8 NM_203447.3(DOCK8): c.2340G> C (p.Leu780=) single nucleotide variant Benign rs10814431 GRCh38 Chromosome 9, 377111: 377111
19 DOCK8 NM_203447.3(DOCK8): c.2916C> T (p.Thr972=) single nucleotide variant Benign rs2297075 GRCh37 Chromosome 9, 390512: 390512
20 DOCK8 NM_203447.3(DOCK8): c.2916C> T (p.Thr972=) single nucleotide variant Benign rs2297075 GRCh38 Chromosome 9, 390512: 390512
21 DOCK8 NM_203447.3(DOCK8): c.3021T> C (p.Phe1007=) single nucleotide variant Benign/Likely benign rs7034926 GRCh37 Chromosome 9, 396835: 396835
22 DOCK8 NM_203447.3(DOCK8): c.3021T> C (p.Phe1007=) single nucleotide variant Benign/Likely benign rs7034926 GRCh38 Chromosome 9, 396835: 396835
23 DOCK8 NM_203447.3(DOCK8): c.3208A> G (p.Asn1070Asp) single nucleotide variant Benign/Likely benign rs73382631 GRCh37 Chromosome 9, 399233: 399233
24 DOCK8 NM_203447.3(DOCK8): c.3208A> G (p.Asn1070Asp) single nucleotide variant Benign/Likely benign rs73382631 GRCh38 Chromosome 9, 399233: 399233
25 DOCK8 NM_203447.3(DOCK8): c.3230G> A (p.Ser1077Asn) single nucleotide variant Benign/Likely benign rs34627722 GRCh37 Chromosome 9, 399255: 399255
26 DOCK8 NM_203447.3(DOCK8): c.3230G> A (p.Ser1077Asn) single nucleotide variant Benign/Likely benign rs34627722 GRCh38 Chromosome 9, 399255: 399255
27 DOCK8 NM_203447.3(DOCK8): c.3565A> G (p.Ile1189Val) single nucleotide variant Benign/Likely benign rs77399114 GRCh37 Chromosome 9, 414816: 414816
28 DOCK8 NM_203447.3(DOCK8): c.3565A> G (p.Ile1189Val) single nucleotide variant Benign/Likely benign rs77399114 GRCh38 Chromosome 9, 414816: 414816
29 DOCK8 NM_203447.3(DOCK8): c.5187A> G (p.Val1729=) single nucleotide variant Benign/Likely benign rs111535933 GRCh37 Chromosome 9, 439352: 439352
30 DOCK8 NM_203447.3(DOCK8): c.5187A> G (p.Val1729=) single nucleotide variant Benign/Likely benign rs111535933 GRCh38 Chromosome 9, 439352: 439352
31 DOCK8 NM_203447.3(DOCK8): c.5211G> A (p.Glu1737=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098809 GRCh37 Chromosome 9, 439376: 439376
32 DOCK8 NM_203447.3(DOCK8): c.5211G> A (p.Glu1737=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098809 GRCh38 Chromosome 9, 439376: 439376
33 DOCK8 NM_203447.3(DOCK8): c.5491-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs184867151 GRCh37 Chromosome 9, 443420: 443420
34 DOCK8 NM_203447.3(DOCK8): c.5491-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs184867151 GRCh38 Chromosome 9, 443420: 443420
35 DOCK8 NM_203447.3(DOCK8): c.5818-14C> T single nucleotide variant Benign/Likely benign rs10124592 GRCh37 Chromosome 9, 449770: 449770
36 DOCK8 NM_203447.3(DOCK8): c.5818-14C> T single nucleotide variant Benign/Likely benign rs10124592 GRCh38 Chromosome 9, 449770: 449770
37 DOCK8 NM_203447.3(DOCK8): c.5832G> A (p.Pro1944=) single nucleotide variant Benign/Likely benign rs10491684 GRCh37 Chromosome 9, 449798: 449798
38 DOCK8 NM_203447.3(DOCK8): c.5832G> A (p.Pro1944=) single nucleotide variant Benign/Likely benign rs10491684 GRCh38 Chromosome 9, 449798: 449798
39 DOCK8 NM_203447.3(DOCK8): c.5908G> C (p.Ala1970Pro) single nucleotide variant Benign/Likely benign rs34908836 GRCh37 Chromosome 9, 449874: 449874
40 DOCK8 NM_203447.3(DOCK8): c.5908G> C (p.Ala1970Pro) single nucleotide variant Benign/Likely benign rs34908836 GRCh38 Chromosome 9, 449874: 449874
41 DOCK8 NM_203447.3(DOCK8): c.65C> T (p.Ala22Val) single nucleotide variant Benign rs506121 GRCh37 Chromosome 9, 271638: 271638
42 DOCK8 NM_203447.3(DOCK8): c.65C> T (p.Ala22Val) single nucleotide variant Benign rs506121 GRCh38 Chromosome 9, 271638: 271638
43 DOCK8 NM_203447.3(DOCK8): c.187G> A (p.Asp63Asn) single nucleotide variant Benign/Likely benign rs3209441 GRCh37 Chromosome 9, 286491: 286491
44 DOCK8 NM_203447.3(DOCK8): c.187G> A (p.Asp63Asn) single nucleotide variant Benign/Likely benign rs3209441 GRCh38 Chromosome 9, 286491: 286491
45 DOCK8 NM_203447.3(DOCK8): c.699T> C (p.Asn233=) single nucleotide variant Benign rs2039045 GRCh37 Chromosome 9, 312124: 312124
46 DOCK8 NM_203447.3(DOCK8): c.699T> C (p.Asn233=) single nucleotide variant Benign rs2039045 GRCh38 Chromosome 9, 312124: 312124
47 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh37 Chromosome 17, 40477064: 40477064
48 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh38 Chromosome 17, 42325046: 42325046
49 PGM3 NM_001199917.1(PGM3): c.1102_1104delGAA (p.Glu368del) deletion Pathogenic rs267608259 GRCh38 Chromosome 6, 83178682: 83178684
50 PGM3 NM_001199917.1(PGM3): c.1102_1104delGAA (p.Glu368del) deletion Pathogenic rs267608259 GRCh37 Chromosome 6, 83888401: 83888403

Expression for Hyper Ige Syndrome

Search GEO for disease gene expression data for Hyper Ige Syndrome.

Pathways for Hyper Ige Syndrome

Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 IFNG IGHE IL4 IL4R STAT3 TLR4
2
Show member pathways
13.48 IFNG IL4 IL4R STAT3 TLR4 TYK2
3
Show member pathways
13.16 IFNG IGHE IL4 IL4R STAT3 TYK2
4
Show member pathways
13.02 IFNG IL4 IL4R STAT3 TLR4
5
Show member pathways
12.88 IL4 IL4R STAT3 TYK2
6
Show member pathways
12.82 IL4 IL4R TLR4 TYK2
7 12.67 IFNG IL4 IL4R STAT3
8
Show member pathways
12.61 IFNG IL4 STAT3 TLR4 TYK2
9
Show member pathways
12.6 IL4 IL4R STAT3 TYK2
10
Show member pathways
12.46 IFNG IGHE IL4 IL4R
11 12.4 IFNG IL4 STAT3 TYK2
12
Show member pathways
12.19 STAT3 TLR4 TYK2
13
Show member pathways
12.18 IFNG IL4 STAT3
14
Show member pathways
12.15 IFNG STAT3 TYK2
15
Show member pathways
12.09 IFNG IL4 IL4R STAT3 TYK2
16
Show member pathways
12.05 IFNG STAT3 TLR4 TYK2
17
Show member pathways
12.04 IFNG IL4 TLR4
18
Show member pathways
12.04 IGHE IL4 IL4R STAT3 TYK2
19 12.03 IFNG STAT3 TLR4
20
Show member pathways
11.97 IFNG IL4 IL4R STAT3 TLR4 TYK2
21
Show member pathways
11.91 IFNG IL4 IL4R STAT3
22
Show member pathways
11.89 IFNG IL4 TLR4
23 11.87 IFNG IL4 TLR4
24
Show member pathways
11.85 IFNG STAT3 TLR4 TYK2
25
Show member pathways
11.83 IFNG IL4 STAT3 TLR4 TYK2
26 11.77 IFNG STAT3 TLR4
27
Show member pathways
11.72 IFNG IL4 STAT3 TYK2
28 11.65 IFNG IL4R STAT3 TYK2
29 11.54 IGHE IL4 IL4R
30 11.42 IL4 STAT3 TYK2
31 11.41 HBA2 IFNG TLR4
32 11.38 IFNG IL4 IL4R
33 11.33 STAT3 TYK2
34 11.29 STAT3 TYK2
35
Show member pathways
11.28 STAT3 TYK2
36 11.22 HBA2 IFNG
37 11.21 STAT3 TLR4 TYK2
38 11.18 IFNG IL4
39 11.17 IFNG IL4 IL4R
40 11.12 IFNG IL4
41 11.1 IFNG STAT3
42
Show member pathways
11.1 IFNG STAT3 TYK2
43 11.08 IGHE IL4 IL4R STAT3 TYK2
44 11.07 IFNG IL4
45 10.91 STAT3 TYK2

GO Terms for Hyper Ige Syndrome

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.73 IFNG IL4 STAT3 TLR4
2 interleukin-12-mediated signaling pathway GO:0035722 9.54 IFNG TYK2
3 positive regulation of nitric oxide biosynthetic process GO:0045429 9.52 IFNG TLR4
4 positive regulation of B cell proliferation GO:0030890 9.51 IL4 TLR4
5 positive regulation of interleukin-12 production GO:0032735 9.49 IFNG TLR4
6 negative regulation of osteoclast differentiation GO:0045671 9.48 IL4 TLR4
7 positive regulation of macrophage activation GO:0043032 9.46 IL4R TLR4
8 negative regulation of interleukin-17 production GO:0032700 9.4 IFNG TLR4
9 interleukin-27-mediated signaling pathway GO:0070106 9.37 STAT3 TYK2
10 immune response GO:0006955 9.35 IFNG IGHE IL4 IL4R TLR4
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 IFNG IL4 STAT3
12 interleukin-23-mediated signaling pathway GO:0038155 9.32 STAT3 TYK2
13 positive regulation of MHC class II biosynthetic process GO:0045348 9.26 IL4 TLR4
14 cytokine-mediated signaling pathway GO:0019221 9.02 IGHE IL4 IL4R STAT3 TYK2

Sources for Hyper Ige Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....